Welcome back! Summer vacations have come to an end, we’ve passed the Labor Day mark, school is back in session, and we’ve reached the never ending season of Jewish holidays. We’re finally (almost) back to regular swing of things.
Here at the Program for Jewish Genetic Health, we’re also really excited about kicking off the New Year. We recently reflected on some of the projects we’ve been working on, and have realized that we have quite a bit to be proud of!
We’ve been trying to spread information and education about genetics and how it impacts the Jewish community. This past January, Estie wrote an article for the Jewish Press talking about the importance of preconception carrier screening, and just this past August, she wrote another article explaining the importance and utility of genetic counseling. I wrote an article which appeared in the Jewish Press about BRCA related hereditary cancers and the usefulness of genetic testing.
Over the past year, we launched our GeneSights online education platform, as well as three lessons; Genetics 101, Hereditary Breast and Ovarian Cancer (BRCA1 and BRCA1), and Inflammatory Bowel Disease: Crohn’s Disease and Ulcerative Colitis. Our next lesson: Preconception Carrier Screening: Tay Sachs and many other diseases, has already been filmed, and we’re planning to launch it this October or November!
We’ve given numerous in-person talks and educational events in and around the NY area as well as in Memphis, TN, Chicago, IL, and Phoenix, AZ. In addition to community education, we’ve focused on educating Rabbis, community leaders, and healthcare providers about some of these important issues. We have a number of new educational events scheduled and in the works for the upcoming year!
Aside from being able to help coordinate carrier screening at our clinical offices at Montefiore, we’ve also held a community screen this year at Columbia University. Our annual community screen for Stern College, YU, and the Mount Sinai Washington Heights community is coming up soon, and will be on November 10th, 2013 (hope to see you there!).
To me, the fall has always felt like a time of new beginnings. As I child, I loved going back to school, learning new things, and getting a fresh new start. Here at the Program for Jewish Genetic Health we have lots of new and exciting projects in the works. We’re hoping that this upcoming year will be a fantastic one for our PJGH family, and for yours.
(And to get back on my soap-box for one more minute, as I’ve done now on numerous occasions, I’ll remind you to find out more about your family medical history. If you’ll be with family over the holidays, use this opportunity to speak with them and gather this important and potentially lifesaving information!)
Guest Blogger, Elana Bengualid, writes about her thoughts on the “Angelina Effect“:
Angelina Jolie is one of the world’s most prominent actresses, and is also a statistic of the 1 in 500- 1 in 800 people who have an increased risk of developing breast and/or ovarian cancer due to a mutation in the BRCA1 or BRCA2 gene. Therefore, when she valiantly shared her story with the public it undoubtedly created an immediate medical and cultural phenomenon.
It is evident that Jolie has inspired many to be proactive about their genetic health as the labs that test for the hereditary breast and ovarian cancer mutations have experienced a dramatic increase in the demand of test orders since her story was published in The New York Times in May. Most notably, Jolie’s decision to undergo a double mastectomy consequently led to about 250,000 Google searches on the prophylactic surgery in just one day, greater than the amount of people who will be diagnosed with breast cancer each year. Jolie’s story is empowering for she was courageous in taking appropriate steps to decrease her risk of breast cancer from 87% to about 5%, and through her journey she was able to change the image of this somewhat daunting process by exuding confidence, and becoming a public example which others can emulate.
However, at what age should one confront this information? How will Jolie’s actions influence young men and women who have similar family histories of breast and ovarian cancer? It is important to note that genetic counselors do not normally recommend that a person get tested before the age of 25. Recommendations for screening and preventative surgeries for high risk start at the age of 25, for the patients would not be able to do anything with the information except process and share it with family a member (which is important too!).
As a summer intern for the Program for Jewish Genetic Health, I was privileged to able to shadow the genetic counselors. One of the cases I observed was counseling for a 23 year old woman whose mother had passed away from breast cancer at age 39. The patient had been waiting to get tested for the BRCA mutation since her mother’s diagnosis, four years prior. Although young for testing, the patient was mature and her determination to confront this situation with the utmost diligence was admirable. Seeing the strength with which this young woman, three years older than I, pursued genetic counseling was inspiring. She was empowered to be proactive about her health, and that unwavering resolve is a quality that everyone, no matter what the situation, can learn from.
Personally, I do feel that it is extremely important to know if an individual is a BRCA mutation carrier not only for that person’s health, but also for their family members’ health. Regardless of what is considered the “right” age by medical professionals, certain individuals may be emotionally and psychologically ready to undergo testing at an earlier age. For these young women, it is amazing to have a public figure like Angelina Jolie serve as a role model and give them someone to relate to who has already experienced this, and persevered with grace.
Elana is a summer intern for the Program for Jewish Genetic Health. She is a junior at Barnard College and is majoring in Spanish and Latin American Cultures.
I was at a party this past weekend and I overheard one man saying to another, “No, you don’t have ovaries.” Mystified, I jumped into the conversation, either to get in on the joke or to provide some basic biology input. It turns out that one of those men was saying that he wanted to go for BRCA testing, which prompted the other one’s “interesting” retort.
And thus arose my opportunity to educate what soon became a whole bunch of men! The man who was interested in BRCA testing shared that he had a strong family history of a variety of cancers, and also knew that men could be BRCA mutation carriers. But not too many of the other men there knew the latter. Part of this stems from the fact that when we hear about BRCA, we usually hear about breasts and ovaries, see the color pink, and, most recently, associate all of this with Angelina Jolie (the “Angelina angle” is where the whole conversation between the two men started).
I reminded the group that men are equally as likely to be BRCA carriers as are women. And that the chance of being a carrier is about 1 in 500 in the general population, and about 1 in 40 for individuals of Ashkenazi Jewish heritage (regardless of personal/family history of cancer). I informed them that male BRCA carriers have increased risks of several cancer types including male breast cancer, prostate cancer, pancreatic cancer, and melanoma, among others. Finally, I told them that BRCA carriers have a 50% chance of passing the mutation onto their offspring, be those male or female offspring. Not wanting to push my luck, but sensing that I still had a captive audience, I directed them to our Hereditary Breast and Ovarian Cancer lesson on www.GeneSights.com).
Shortly after, the conversation drifted back to party small talk. But, I knew I had had my moment, and also my material for a new blog.
This really cool new movie just came out. I can’t wait to see it. It’s called “Decoding Annie Parker,” starring Helen Hunt as Dr. Marie Claire King. Oh, you haven’t heard of Dr. Marie Claire King? She is one of the many rock stars of the genetics world, having discovered the BRCA1 gene back in the mid-1990s. (For more information about the film, possible screenings, and the BRCA1 gene, see their website http://www.decodingannieparkerfilm.com/)
Yes, those are the same BRCA genes associated with Hereditary Breast and Ovarian Cancer which we keep on urging you to be aware of and consider testing for (if appropriate). Most people actually don’t realize that there is only one lab (company) in the U.S., Myriad Genetics, that performs complete genetic testing for these genes, since it holds a patent on the BRCA1 and BRCA2 genes.
Wait, you haven’t heard of gene patents either?
Although genes are considered “products of nature,” many labs have patented genes, or well, the technology used to isolate, study and test the genes. If a lab holds a patent on a gene, they can:
A) Ignore the patent and allow others to test for the gene(s) free of charge
B) Enforce their patent and collect royalties from other labs in order to do testing on the gene(s)
C) Enforce their patent and fine labs a significant penalty if they do clinical testing on the gene(s)
Myriad Genetics, the lab in question, does both B and C. This basically means that if you wanted genetic testing for mutations in the BRCA genes because of a personal or family history of breast and/or ovarian cancer, I, as your genetic counselor, would only be able to send your testing to this one lab. If for some reason your insurance did not want to cover the testing, you would be responsible to pay for the testing yourself, which at this point would be upwards of $4,000. If you were unable to afford the cost of the testing, you would not be able to have the testing done.
Patents however, do encourage innovation and advancement of medical research. Myriad Genetics has the most experience with BRCA testing and interpreting the results. They maintain a database of variants of uncertain significance (which are uncertain results that we can get from genetic testing) and reclassify these variants, ie- reinterpret the results, as new information becomes available.
Since 2009, The American Civil Liberties Union (ACLU) and many medical and genetics organizations and individuals have been involved in a lawsuit against Myriad Genetics to try and overthrow the patents in question, but the case will likely have more far reaching implications (beyond BRCA) for both gene patents and intellectual property laws. The case has already been to the U.S. Supreme Court and was sent back to the Federal Appeals Court, only to reach the Supreme Court again. Arguments are scheduled to be heard this coming Monday, 4/15/13.
For more background information about the case, you can visit the following reputable sources:
The NY Times (March 2012) http://www.nytimes.com/2012/03/27/business/high-court-orders-new-look-at-gene-patents.html
The New Yorker (April 2013) http://www.newyorker.com/online/blogs/elements/2013/04/myriad-genetics-patent-genes.html
We’re all interested to see how this will turn out. Will the Supreme Court uphold the patents? Only time will tell…
From my perspective, the answer is a resounding YES. Disclosure of genetic information to family members is crucial; after all, your family shares a portion of your genes. This information could be life-saving! If we identify a genetic risk factor for you, it means that other family members very well might have a same risk factor. If we pinpoint who in the family is at risk, those individuals can start appropriate screening or treatment before they develop disease, hence, ‘life-saving’.
For example, your Aunt Claire was diagnosed with breast cancer at age 46. She goes through genetic counseling and genetic testing and is identified to have a BRCA mutation. However, she doesn’t want to tell anyone about it because she feels uncomfortable discussing her cancer diagnosis and the genetics results. Maybe she feels ashamed or doesn’t want people to know and think of her differently. 10 years go by and Aunt Claire is doing fine, but finds out that her niece, Jessica, (your cousin) was diagnosed with breast cancer at age 30. She hadn’t been doing any cancer screening aside from her self-breast exams, so by the time the cancer was identified, it was already at a late stage and not easily treatable. Jessica’s older sister, Melissa goes in for a mammogram after her sister’s diagnosis, and is diagnosed with an early stage breast cancer at age 34. Jessica and her Melissa both have genetic testing and are identified to have the same BRCA mutation as their Aunt Claire. Jessica’s breast cancer however is too extensive, and she dies from her breast cancer at age 30. Melissa’s cancer was caught at any early and treatable stage, and she makes a full recovery.
So you see, this situation could have been preventable! This is how I’d like to hear this story told:
Your Aunt Claire was diagnosed with breast cancer at age 46. She goes through genetic counseling and genetic testing and is identified to have a BRCA mutation. Even though Aunt Claire feels uncomfortable about sharing her genetic results, she decides that since this information can have practical implications for her family members, she shares the information with her family. Your mother, and your Uncle Bobby (Jessica and Melissa’s dad) both undergo genetic testing for Aunt Claire’s BRCA mutation. Your mom’s results are normal (ie- she doesn’t have it, and she and yourself are not at increased risk for breast cancer). Uncle Bobby does carry the same BRCA mutations, which means he’s at increased risk for male breast cancer, prostate cancer, and pancreatic cancer, and his three daughters, Melissa and Jessica each have a 50% chance of having inherited the same BRCA mutation. Melissa at this point is 23 and Jessica is 19. Neither of them are ready to be tested yet, but once they each turn 25, they start screening for breast cancer with both mammogram and breast MRI. (We will treat them as if they were high risk until proven otherwise.) When they’re ready, Melissa and Jessica all undergo genetic testing. Melissa and Jessica find out that they both have the same BRCA mutation that’s running in the family. Melissa and Jessica continue their breast screening and one by one their breast cancers are identified, for Jessica, at age 28 and for Melissa, at age 34. For both of them, their cancers are caught at an early stage, treated, and they each get to go on and continue to lead healthy and productive lives, while continuing their breast screening, of course.
I recognize I’ve simplified these situations quite a bit. This however is only the “why.” The “who,” “what,” “where,” “when,” and “how” of disclosure? Those are all very good questions, and a completely different story.
We’ve already spoken about two of the most common genetics visits (prenatal and pediatric). The third common genetics visit is for cancer genetics. You might be sent to speak to a genetic counselor because you’ve had either a personal or family history of cancer. Usually we are concerned when many individuals in one family are diagnosed with cancer, specifically at young ages (<50 years old). The concern is that the cancer in your family may have been caused by something hereditary, which could then cause yourself or other family members to have a higher risk for cancer than others in the general population.
At a cancer genetics appointment, you won’t necessarily have genetic testing. The majority of the session is spent reviewing your family history . The genetic counselor will ask you a number of questions about all of the individuals in your family who have had cancer (and those who haven’t!). How are they related to you? What kind of cancer did they have? How old were they when they were diagnosed? Has anyone else in the family had genetic testing before? (Speak with your family before going in for your cancer genetics appointment to find out the answers to these questions!)
Once you’d discussed the family history, the genetic counselor/geneticist will let you know how likely they think it is that the cancer in your family is being caused by something inherited and they will educate you about the specific cancer syndromes they are considering and which gene or genes they recommend testing.
“So what if the cancer in my family is inherited? I wouldn’t want to know if I had a higher chance to develop cancer than other people! I’ll probably just get cancer like everyone else did.”
That is definitely one perspective, but the truth is that the area of cancer genetics is one the most empowering area of genetics now-a-days. If we are able to identify individuals who are at an increased risk for cancer, we can recommend increased screening protocols so that cancer can be detected at an earlier and treatable stage. Additionally, some individuals with a hereditary increased risk for cancer may decide to use chemoprevention (medications which may reduce cancer risk for some women) or undergo preventive surgeries in order to reduce their risk for cancer.
The final decision of whether or not to undergo genetic testing is ultimately up to you, but the genetic counseling visit is vital in order to determine what gene or genes should be tested, and to provide you with the information you need to make that decision.
Myrna Ben-Yishay, MS, CGC, has been a genetic counselor for 37 years. After receiving her Master’s degree in Human Genetics at Sarah Lawrence College in 1975, her first job was in Tel Aviv, Israel. The field was unknown at the time and she was the only genetic counselor in the country. Upon returning to New York in 1977 she accepted a position with Dr. Harold Nitowsky, one of the first medical geneticists, at Albert Einstein College of Medicine that later transitioned to Montefiore Medical Center. She recently retired after 35 years. Over her career she had the opportunity to provide genetic counseling for pediatric, prenatal and adult patients. For the past 17 years she specialized in cancer genetic counseling. She has mentored numerous genetic counseling students, medical students, residents and fellows.
Myrna sat down to talk to the PJGH about her experience as a genetic counselor and to give advice to newcomers to the field.
1) How has the field of genetic counseling changed since you started your career?
In the 1970’s our genetic knowledge was very basic. We knew there were 46 chromosomes and thousands of genes. Based on clinical observation of families and case studies, we could determine if a disease was likely to be hereditary and provide families with verbal risk assessment. Over the years the human genome has been sequenced and 20, 000 genes have been identified. Disease causing mutations are now known for many diseases and accurate genetic testing is available to determine who is a carrier or affected with a disease. Families can now be offered precise genetic testing and have the information they need to make informed decisions.
Also, prenatal diagnosis was once limited to women over 35 in order to determine how many chromosomes a fetus had. Today first trimester screening and genetic testing for chromosome abnormalities is available for all pregnant women.
2) What are the most important traits or skills needed to be a good genetic counselor?
Among the many skills required of a genetic counselor the most important are a solid understanding of molecular genetics and genetic diseases, excellent communication skills, and empathy.
3) What is one piece of advice you have for people who are considering a career in genetic counseling?
I would advise someone to consider becoming a genetic counselor if they are very interested in human genetics, psychology, patient contact, and excited to be in a field where new information is constantly unfolding. My career as a genetic counselor has been personally and professionally rewarding.
A few weeks ago, Emily, one of my fellow genetic counselors, saw an Ashkenazi Jewish young woman and her mother for counseling. The reason for their visit was because the mother has a BRCA mutation, which means that she carries a genetic mutation which dramatically increases her risk to develop breast and ovarian cancer. It also means that each of her children has a 50% risk of inheriting the same mutation.
As in any genetic counseling session, Emily took a detailed family history. Her questioning led her to learn some new facts about the young woman: she was only half Ashkenazi, and she and her husband had already done some carrier screening for common diseases in the Ashkenazi population that could affect offspring a few years earlier, and were found to be genetically ‘compatible.’ Emily recommended that she update her panel, despite her only being half Ashkenazi, since she was not tested for the whole battery of tests that is available today. The thought of updating had never crossed her mind. The young woman also had BRCA testing on that day, which at the time, was more anxiety-provoking since its potential results carried more ramifications to her own health.
About 2 weeks later, the results were in. It turns out she was a carrier for 3 ”Ashkenazi Jewish” diseases that she was not tested for earlier! A triple carrier! Had Emily not taken the time to take the family history and think about things that were beyond what the patient came to talk about, this may have not been picked up. This story has a happy ending –the young woman was negative for the BRCA mutation (phew!) and her husband tested negative for all 3 diseases. But unfortunately it does not always end this well.
Emily’s story makes me want to remind you that genetic information can be difficult to sort through. That is why I am encouraging you to have a genetic counselor explain it all in English and make sure all the proper testing is ordered. Thinking outside the lines comes with proper training and therefore, if you have any concerns about your genetic health, I strongly encourage you to seek professional help in this realm. You never know.
As a genetic counselor in the Division of Reproductive Genetics, it is not very often that I see a male patient. This past week, however, I had the honor of seeing a man for cancer genetic counseling. I consider it an honor because this man’s character was so genuine and the feelings he expressed to me were so raw and from the heart, that I walked out of our session with a lot of positivity about life and about what family means to me.
My patient was a 61 year old man who was recently diagnosed with breast cancer. He came to see me because men who carry a BRCA mutation have about a 10% chance of developing breast cancer and his doctor thought BRCA testing may be warranted. Immediately following his diagnosis, he called his daughter (a 34 year old mother of two small children) to tell her the news. In a panic, she visited her gynecologist who found a small lump and diagnosed her with stage 1 breast cancer. She is currently being treated and is expected to have a good prognosis. When recounting his story, my patient said to me, “I am so thankful to God that I have cancer. If I wouldn’t have found my cancer, my daughter would never have checked and she would have left behind a 4 year old and a 1 year old. I am so lucky.”
Lucky to have cancer? I have never heard that one before. But those words struck me. I know it was not his decision to develop cancer, but when he was dealt those cards, he coped quite nicely. This man was able to reflect on the one positive of his horrific situation. In life, we are handed the short end of the stick from time to time-but we must stay optimistic and look however hard we need to find that glimmer of hope and positivity. I think that I told everyone I have seen since then about my favorite patient. If only we could all be that selfless…